[Genes and their functional mechanisms in the pathogenesis of muscular dystrophy]

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2005 Jun;27(3):394-400.
[Article in Chinese]

Abstract

Muscular dystrophy (MD), a group of inherited disorders characterized by progressive skeletal muscle wasting and weakness, can be classified into several groups according to Mendelian inheritance patterns and clinical features. Many genes related to MD have been identified and cloned by genetic linkage analysis and positional cloning strategy. Our understanding of the molecular mechanisms giving rise to muscular dystrophy have made a progress by the functional analysis of proteins encoded by candidate genes for MD. This article reviews genes and their functional mechanisms in the pathogenesis of muscular dystrophy.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Calpain / genetics*
  • Dystrophin / genetics*
  • Humans
  • Lamin Type A / genetics
  • Muscle Proteins / genetics
  • Muscular Dystrophies / etiology
  • Muscular Dystrophies / genetics*
  • Myostatin
  • Transforming Growth Factor beta / genetics*
  • Tripartite Motif Proteins
  • Ubiquitin-Protein Ligases / genetics

Substances

  • Dystrophin
  • Lamin Type A
  • MSTN protein, human
  • Muscle Proteins
  • Myostatin
  • Transforming Growth Factor beta
  • Tripartite Motif Proteins
  • TRIM63 protein, human
  • Ubiquitin-Protein Ligases
  • Calpain